HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94981210T>A , CM000672.2:g.94981210T>A | GRCh38 |
NC_000010.10:g.96740967T>A , CM000672.1:g.96740967T>A | GRCh37 |
NC_000010.9:g.96730957T>A | NCBI36 |
NG_008385.1:g.47553T>A | |
NG_008385.2:g.48053T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.989T>A MANE Select | ENSP00000260682.6:p.Val330Glu | |
ENST00000643112.1:c.847T>A | ENSP00000496202.1:p.Ter283Arg | |
ENST00000260682.6:c.989T>A | ENSP00000260682.6:p.Val330Glu | |
NM_000771.3:c.989T>A | NP_000762.2:p.Val330Glu | |
NM_000771.4:c.989T>A MANE Select | NP_000762.2:p.Val330Glu |